Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
Nausea
Nausea (ictal) Ataxia Ataxia, limb -Gait ataxia (interictal) Emotional stress trigger Gait ataxia Ataxia (ictal) Headache -Gait ataxia (ictal) -Limb ataxia (interictal) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Ataxia (ictal)
-Gait ataxia (ictal) Headache Nystagmus (interictal) Square wave jerks Dysarthria (ictal) Nystagmus Dysarthria Ataxia Gait ataxia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Vomiting (ictal)
Gait ataxia Vertigo -Gait ataxia (interictal) Ataxia, limb Ataxia Vomiting Dysarthria (ictal) Headache (ictal) Dysarthria Ataxia, limb (ictal) Vertigo (ictal) Square wave jerks Nystagmus Headache Ataxia (ictal) Nystagmus (interictal) -Gait ataxia (ictal) Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Nystagmus
Nausea (ictal) Dysarthria -Gait ataxia (ictal) Nausea Dysarthria (ictal) Emotional stress trigger Gait ataxia Ataxia (ictal) Ataxia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Gait ataxia
Emotional stress trigger Diplopia -Gait ataxia (ictal) Dysarthria (interictal) -Gait ataxia (interictal) Dysarthria Ataxia, limb Headache (ictal) Nystagmus Ataxia (ictal) Nystagmus (interictal) Diplopia (ictal) Headache Dysarthria (ictal) Fatigue trigger Ataxia Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Nystagmus (ictal)
Nausea (ictal) Cerebellar atrophy Vertigo -Gait ataxia (ictal) Gait ataxia Vomiting (ictal) Vomiting Nystagmus Ataxia -Limb ataxia (interictal) Seizures Vertigo (ictal) Ataxia (ictal) Ataxia, limb Nausea Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Nystagmus
Nystagmus (interictal) Ataxia Vomiting (ictal) Vomiting -Gait ataxia (interictal) Ataxia (ictal) Gait ataxia -Gait ataxia (ictal) Show more (+6) |
n.a.
|